A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate / 소아과
Korean Journal of Pediatrics
;
: 230-233, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-83628
ABSTRACT
Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Apneia
/
Convulsões
/
Trombose dos Seios Intracranianos
/
Trombose
/
Edema Encefálico
/
Sistema Nervoso Central
/
Hiperglicinemia não Cetótica
/
Diagnóstico
/
Diagnóstico Diferencial
/
Letargia
Tipo de estudo:
Estudo diagnóstico
Limite:
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2015
Tipo de documento:
Artigo
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